Thyroid Cancer: Does It Run in the Family?

What you need to know about the genetics of thyroid cancer

100% — that’s the survival rate for thyroid cancer if we can diagnose the disease early.

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That’s good news when you consider that thyroid cancer is the fastest-growing cancer among men and second-fastest among women. Thanks to research, we know more than ever about this group of diseases.

And thanks to improved genetic counseling and screening, we can help you do something about it.

Many different genes play a part

Through the years, we have identified many genes that play a role in thyroid cancer. For example, RET gene mutations are associated with medullary thyroid cancer (MTC), which is rare but often hereditary. The gene PTEN is linked to Cowden Syndrome and mainly follicular thyroid cancer, and mutations in the gene SDH and epimutation of KLLN increase the risk for papillary thyroid cancer. The list of these genes and their connections is growing as our research continues.

If it sounds confusing, never fear — that’s what geneticists and genetic counselors are for. They can walk you through the process of assessing your risk and determining what screenings, if any, you may need.

Red flags for genetic thyroid cancer

Several warning signs point to genetic thyroid cancer. If any of these red flags apply to you, ask your doctor about genetic counseling:

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1. You have a family history of thyroid and/or other cancers. Family history provides crucial information about your risk of cancer.

2. You get thyroid cancer before age 45. Most types of thyroid cancer do not appear until later in life, so early onset may be a warning sign of genetic cancer.

3. Your type of cancer is MTC. This type is rare, and chances are high that it is genetic. Do not delay. See a genetic counselor right away.

4. You get thyroid cancer and have another risk factor. Some examples: A close relative had thyroid cancer at any age, a close male relative had thyroid cancer (it’s more rare among men than women), or a close relative had other types of cancer.

5. You have thyroid cancer and another type of cancer. Different types of cancer often go hand in hand with genetic mutations. For example, mutations in the PTEN gene put people at higher risk of both thyroid and breast cancer.

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6. One of your family members has a gene mutation. In this case you should be tested too. This does not mean you automatically inherited the family mutation. You have an equal chance that it will be negative.

What comes after counseling and testing?

Knowing your genetic mutations means we can tailor how we manage, treat and screen for thyroid cancer.

For example, mutations in the RET gene are so specific that they tell us exactly what to do. For a strong mutation, treatment may include prophylactic thyroidectomy (removal of the thyroid), and we will screen you regularly for thyroid cancer, adrenal gland tumors and parathyroid issues. But for a weaker form of the mutation, we may need to screen only for thyroid cancer.

Genetic information about thyroid cancer can be truly empowering. And don’t forget the 100% survival rate that comes with early diagnoses — the more we know, the closer to that percentage we can get.

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